Nutrition Survey of Individuals with Rhizomelic Chondrodysplasia Punctata (RCDP) and Other Disorders of Plasmalogen Biosynthesis

Peroxisomal disorders of plasmalogen synthesis are rare, inborn errors of metabolism that can result in rhizomelic chondrodysplasia punctata (RCDP). RCDP has been presumed to be clinically severe, but we are aware of multiple individuals who are more mildly affected and surviving beyond the first months of life. The growth and nutritional status has not been characterized, but is one of the most frequent questions that we receive.

In addition because of the underlying biochemical defect, some individuals are placed on diets with low phytanic acid content. It is not known how many individuals are on such diets or have attempted them.

We propose to survey families by a mailed questionnaire to gather information on growth, feeding status, and nutrition. Information obtained from this study will serve as general guidance for affected individuals and potentially lead to further studies.